| Accession | HsInv0537 | Region of the inversion | chr14:18555605-19156779 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 598,179 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr14:18555605-18558407 |
| Ancestral orientation | NA | Breakpoint 2 | chr14:19153588-19156779 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr14:18556149-18557863 | Breakpoint 2 | chr14:19154521-19155846 | ||||
| Individuals |
| ||||||
- Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||||||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr14:18547053-18569219 | Breakpoint 2 | chr14:19137480-19164445 | ||||||||||||||||||||
| D/C Score | -3.21 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 4 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr14:18555605-18558407 | Breakpoint 2 | chr14:19153588-19156779 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
|
||||
| Flexibility | 11.01 | GC content | 0.31 | Stability | 1.69 |
+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
Not defined
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:48
| Breakpoint 1 | chr14:18555605-18558407 | Breakpoint 2 | chr14:19153588-19156779 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:48
| Breakpoint 1 | chr14:18547053-18569219 | Breakpoint 2 | chr14:19137480-19164445 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
